EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
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DOI：
10.1016/j.yexcr.2006.05.011
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发表时间：
2006-09-10
影响因子：
3.7
通讯作者：
Chanas, Grazyna
中科院分区：
文献类型：
--
作者：
de Nijs, Laurence;Lakaye, Bernard;Chanas, Grazyna
一个新的基因，EFHC 1，突变的青少年肌阵挛性癫痫（JME）编码的蛋白质与三个未知功能的DM 10结构域和一个推定的EF-手基序。为了研究EFHC 1的特性，我们在各种细胞系中表达了EGFP标记的蛋白。在间期细胞中，融合蛋白存在于细胞质和细胞核中，并在中心体特异性聚集。在有丝分裂过程中，EGFP-EFHC 1与有丝分裂纺锤体共定位，特别是在纺锤体极和胞质分裂过程中与中间体共定位。使用特异性抗体，我们证明了内源性蛋白质的相同分布。缺失分析表明，EFHC 1的N-末端区域是至关重要的有丝分裂纺锤体和中间体的协会。我们的研究结果表明，EFHC 1可能在细胞分裂过程中发挥重要作用。(c)2006年爱思唯尔公司All rights reserved.
A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function and one putative EF-hand motif. To study the properties of EFHC1, we expressed EGFP-tagged protein in various cell lines. In interphase cells, the fusion protein was present in the cytoplasm and in the nucleus with specific accumulation at the centrosome. During mitosis EGFP-EFHC1 colocalized with the mitotic spindle, especially at spindle poles and with the midbody during cytokinesis. Using a specific antibody, we demonstrated the same distribution of the endogenous protein. Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division. (c) 2006 Elsevier Inc. All rights reserved.